Amstutz, Ursula; Andrey-Zürcher, Gisela; Suciu, Dominic; Jaggi, Rolf; Häberle, Johannes; Largiadèr, Carlo R (2011). Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clinical chemistry, 57(1), pp. 102-11. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2010.150706
Full text not available from this repository. (Request a copy)Molecular genetic testing is commonly used to confirm clinical diagnoses of inherited urea cycle disorders (UCDs); however, conventional mutation screenings encompassing only the coding regions of genes may not detect disease-causing mutations occurring in regulatory elements and introns. Microarray-based target enrichment and next-generation sequencing now allow more-comprehensive genetic screening. We applied this approach to UCDs and combined it with the use of DNA bar codes for more cost-effective, parallel analyses of multiple samples.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Forschungsbereich Pathologie > Forschungsgruppe Molekularbiologie 04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry |
UniBE Contributor: |
Jaggi, Rolf, Largiadèr, Carlo Rodolfo |
ISSN: |
0009-9147 |
Publisher: |
American Association for Clinical Chemistry |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:21 |
Last Modified: |
05 Dec 2022 14:06 |
Publisher DOI: |
10.1373/clinchem.2010.150706 |
PubMed ID: |
21068339 |
Web of Science ID: |
000285686100017 |
URI: |
https://boris.unibe.ch/id/eprint/7004 (FactScience: 212139) |
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